PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000520381	[[68085746, 68087807], [68112630, 68112748], [68113701, 68113840], [68115317, 68115486], [68116914, 68117054], [68123717, 68123850], [68128824, 68128897], [68130016, 68130155], [68130237, 68130373], [68131665, 68131795], [68137137, 68137268], [68138257, 68138418], [68139371, 68139544], [68139681, 68139833], [68140197, 68140367], [68140458, 68140499], [68145089, 68145180], [68150577, 68150728], [68150969, 68151128], [68152396, 68152525], [68163533, 68163685], [68165685, 68165857], [68169966, 68170051], [68170319, 68170525], [68172049, 68172161], [68178240, 68178442], [68179110, 68179219], [68179325, 68179465], [68179577, 68179679]]	[[68087789, 68087807], [68112630, 68112748], [68113701, 68113840], [68115317, 68115486], [68116914, 68117054], [68123717, 68123850], [68128824, 68128897], [68130016, 68130155], [68130237, 68130373], [68131665, 68131795], [68137137, 68137268], [68138257, 68138418], [68139371, 68139544], [68139681, 68139833], [68140197, 68140367], [68140458, 68140499], [68145089, 68145180], [68150577, 68150728], [68150969, 68151128], [68152396, 68152525], [68163533, 68163685], [68165685, 68165857], [68169966, 68170051], [68170319, 68170525], [68172049, 68172161], [68178240, 68178442], [68179110, 68179219], [68179325, 68179465], [68179577, 68179611]]
ENST00000262215	[[68109883, 68111333], [68112630, 68112748], [68113701, 68113840], [68115317, 68115486], [68116914, 68117054], [68123717, 68123850], [68128824, 68128897], [68130016, 68130155], [68130237, 68130373], [68131665, 68131795], [68137137, 68137268], [68138257, 68138418], [68139371, 68139544], [68139681, 68139833], [68140197, 68140367], [68140458, 68140499], [68145089, 68145180], [68150577, 68150728], [68150969, 68151128], [68152396, 68152525], [68163533, 68163685], [68165685, 68165857], [68169966, 68170051], [68170319, 68170525], [68172049, 68172161], [68178240, 68178442], [68179110, 68179219], [68179325, 68179465], [68179577, 68179677], [68183936, 68184171], [68188210, 68188344], [68189516, 68189692], [68200189, 68200300], [68204081, 68204358], [68208665, 68208845], [68211443, 68211590], [68213458, 68213615], [68214670, 68214701], [68255398, 68255912]]	[[68111168, 68111333], [68112630, 68112748], [68113701, 68113840], [68115317, 68115486], [68116914, 68117054], [68123717, 68123850], [68128824, 68128897], [68130016, 68130155], [68130237, 68130373], [68131665, 68131795], [68137137, 68137268], [68138257, 68138418], [68139371, 68139544], [68139681, 68139833], [68140197, 68140367], [68140458, 68140499], [68145089, 68145180], [68150577, 68150728], [68150969, 68151128], [68152396, 68152525], [68163533, 68163685], [68165685, 68165857], [68169966, 68170051], [68170319, 68170525], [68172049, 68172161], [68178240, 68178442], [68179110, 68179219], [68179325, 68179465], [68179577, 68179677], [68183936, 68184171], [68188210, 68188344], [68189516, 68189692], [68200189, 68200300], [68204081, 68204358], [68208665, 68208845], [68211443, 68211590], [68213458, 68213615], [68214670, 68214701], [68255398, 68255522]]
ENST00000522878	[[68087721, 68087807], [68112630, 68112748], [68113701, 68113840], [68115317, 68115486], [68116914, 68117001], [68123717, 68123764]]	None
ENST00000518290	[[68109908, 68112748], [68113701, 68114040]]	None
ENST00000517955	[[68110639, 68111333], [68112630, 68112748], [68113701, 68114124]]	None
ENST00000518789	[[68111245, 68111333], [68112630, 68112748], [68113701, 68113840], [68115317, 68115486], [68116914, 68117054], [68119329, 68119425]]	[[68111245, 68111333], [68112630, 68112748], [68113701, 68113840], [68115317, 68115438]]
ENST00000518230	[[68112163, 68112748], [68113701, 68113840], [68115317, 68115486], [68116914, 68117054], [68123717, 68123850], [68128824, 68128897], [68130016, 68130155], [68130237, 68130373], [68131665, 68131795], [68137137, 68137268], [68138257, 68138418], [68139371, 68139544], [68139681, 68139833], [68140197, 68140367], [68140458, 68140499], [68145089, 68145180], [68150577, 68150732]]	[[68112420, 68112748], [68113701, 68113840], [68115317, 68115486], [68116914, 68117054], [68123717, 68123850], [68128824, 68128897], [68130016, 68130155], [68130237, 68130373], [68131665, 68131795], [68137137, 68137268], [68138257, 68138418], [68139371, 68139544], [68139681, 68139833], [68140197, 68140302]]
ENST00000517631	[[68139468, 68139544], [68139681, 68139833], [68140197, 68140368]]	[[68139468, 68139544], [68139681, 68139833], [68140197, 68140335]]
ENST00000519436	[[68211548, 68211590], [68213458, 68213615], [68214670, 68214701], [68255398, 68255571], [68255744, 68255912]]	[[68211548, 68211590], [68213458, 68213615], [68214670, 68214701], [68255398, 68255522]]
NM_006421	[[68109883, 68111333], [68112630, 68112748], [68113701, 68113840], [68115317, 68115486], [68116914, 68117054], [68123717, 68123850], [68128824, 68128897], [68130016, 68130155], [68130237, 68130373], [68131665, 68131795], [68137137, 68137268], [68138257, 68138418], [68139371, 68139544], [68139681, 68139833], [68140197, 68140367], [68140458, 68140499], [68145089, 68145180], [68150577, 68150728], [68150969, 68151128], [68152396, 68152525], [68163533, 68163685], [68165685, 68165857], [68169966, 68170051], [68170319, 68170525], [68172049, 68172161], [68178240, 68178442], [68179110, 68179219], [68179325, 68179465], [68179577, 68179677], [68183936, 68184171], [68188210, 68188344], [68189516, 68189692], [68200189, 68200300], [68204081, 68204358], [68208665, 68208845], [68211443, 68211590], [68213458, 68213615], [68214670, 68214701], [68255398, 68255912]]	[[68111168, 68111333], [68112630, 68112748], [68113701, 68113840], [68115317, 68115486], [68116914, 68117054], [68123717, 68123850], [68128824, 68128897], [68130016, 68130155], [68130237, 68130373], [68131665, 68131795], [68137137, 68137268], [68138257, 68138418], [68139371, 68139544], [68139681, 68139833], [68140197, 68140367], [68140458, 68140499], [68145089, 68145180], [68150577, 68150728], [68150969, 68151128], [68152396, 68152525], [68163533, 68163685], [68165685, 68165857], [68169966, 68170051], [68170319, 68170525], [68172049, 68172161], [68178240, 68178442], [68179110, 68179219], [68179325, 68179465], [68179577, 68179677], [68183936, 68184171], [68188210, 68188344], [68189516, 68189692], [68200189, 68200300], [68204081, 68204358], [68208665, 68208845], [68211443, 68211590], [68213458, 68213615], [68214670, 68214701], [68255398, 68255522]]

Promoter

Chrom	Start	End	Description
chr8	68255433	68255443	CAGE_peak_9_at_ARFGEF1_5end
chr8	68255517	68255543	CAGE_peak_4_at_ARFGEF1_5end
chr8	68255564	68255643	CAGE_peak_2_at_ARFGEF1_5end
chr8	68255650	68255661	CAGE_peak_10_at_ARFGEF1_5end
chr8	68255738	68255745	CAGE_peak_11_at_ARFGEF1_5end
chr8	68255941	68255952	CAGE_peak_7_at_ARFGEF1_5end
chr8	68256003	68256034	CAGE_peak_1_at_ARFGEF1_5end
chr8	68256051	68256062	CAGE_peak_5_at_ARFGEF1_5end
chr8	68256092	68256144	CAGE_peak_3_at_ARFGEF1_5end
chr8	68256166	68256177	CAGE_peak_6_at_ARFGEF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I067060	67060794	67066168	2.31	[{'connected_gene': 'CSPP1', 'score': 550.77}, {'connected_gene': 'COPS5', 'score': 550.34}, {'connected_gene': 'ARFGEF1', 'score': 37.87}, {'connected_gene': 'C8orf44', 'score': 15.08}, {'connected_gene': 'TCF24', 'score': 5.33}]
chr8	GH08I066922	66922052	66927158	1.58	[{'connected_gene': 'SNHG6', 'score': 550.77}, {'connected_gene': 'ARFGEF1', 'score': 26.93}, {'connected_gene': 'C8orf44', 'score': 20.36}, {'connected_gene': 'CSPP1', 'score': 12.91}, {'connected_gene': 'TCF24', 'score': 5.12}, {'connected_gene': 'VCPIP1', 'score': 4.29}, {'connected_gene': 'SNORD87', 'score': 0.77}, {'connected_gene': 'GC08M066924', 'score': 0.77}, {'connected_gene': 'GC08M066923', 'score': 0.77}, {'connected_gene': 'MCMDC2', 'score': 0.23}]
chr8	GH08I066663	66663137	66669258	2.28	[{'connected_gene': 'C8orf44', 'score': 555.33}, {'connected_gene': 'C8orf44-SGK3', 'score': 550.77}, {'connected_gene': 'VCPIP1', 'score': 550.77}, {'connected_gene': 'ARFGEF1', 'score': 21.09}, {'connected_gene': 'MYBL1', 'score': 11.59}, {'connected_gene': 'C8orf46', 'score': 4.53}, {'connected_gene': 'ENSG00000201365', 'score': 0.39}]
chr8	GH08I066605	66605952	66614801	2.53	[{'connected_gene': 'MYBL1', 'score': 558.84}, {'connected_gene': 'ARFGEF1', 'score': 16.66}, {'connected_gene': 'C8orf44', 'score': 14.44}, {'connected_gene': 'ADHFE1', 'score': 11.98}, {'connected_gene': 'RRS1', 'score': 10.42}, {'connected_gene': 'RRS1-AS1', 'score': 10.42}, {'connected_gene': 'C8orf46', 'score': 4.71}, {'connected_gene': 'VCPIP1', 'score': 2.9}, {'connected_gene': 'GC08M066612', 'score': 0.77}, {'connected_gene': 'GC08M066613', 'score': 0.77}, {'connected_gene': 'LOC105375884', 'score': 0.77}, {'connected_gene': 'RNU6-1324P', 'score': 0.14}]
chr8	GH08I066436	66436801	66437400	0.51	[{'connected_gene': 'ADHFE1', 'score': 18.92}, {'connected_gene': 'ARFGEF1', 'score': 10.46}, {'connected_gene': 'LOC102724687', 'score': 0.77}, {'connected_gene': 'C8orf46', 'score': 0.34}, {'connected_gene': 'GC08P066013', 'score': 0.05}]
chr8	GH08I067339	67339170	67340295	0.86	[{'connected_gene': 'COPS5', 'score': 9.26}, {'connected_gene': 'CSPP1', 'score': 9.25}, {'connected_gene': 'PPP1R42', 'score': 9.0}, {'connected_gene': 'ARFGEF1', 'score': 0.77}, {'connected_gene': 'LOC102724708', 'score': 0.77}, {'connected_gene': 'GC08M067260', 'score': 0.22}, {'connected_gene': 'GC08P067259', 'score': 0.18}]
chr8	GH08I067316	67316696	67317840	0.56	[{'connected_gene': 'COPS5', 'score': 9.54}, {'connected_gene': 'CSPP1', 'score': 9.54}, {'connected_gene': 'PPP1R42', 'score': 9.43}, {'connected_gene': 'ARFGEF1', 'score': 0.31}, {'connected_gene': 'LOC102724708', 'score': 0.31}, {'connected_gene': 'GC08M067260', 'score': 0.28}, {'connected_gene': 'GC08P067259', 'score': 0.22}]
chr8	GH08I067306	67306826	67308546	0.31	[{'connected_gene': 'COPS5', 'score': 9.15}, {'connected_gene': 'CSPP1', 'score': 9.14}, {'connected_gene': 'PPP1R42', 'score': 8.88}, {'connected_gene': 'GC08M067260', 'score': 0.31}, {'connected_gene': 'ARFGEF1', 'score': 0.28}, {'connected_gene': 'LOC102724708', 'score': 0.28}, {'connected_gene': 'GC08P067259', 'score': 0.25}]
chr8	GH08I067254	67254066	67254215	0.38	[{'connected_gene': 'COPS5', 'score': 10.47}, {'connected_gene': 'CSPP1', 'score': 10.46}, {'connected_gene': 'PPP1R42', 'score': 10.45}, {'connected_gene': 'GC08P067259', 'score': 0.44}, {'connected_gene': 'GC08M067189', 'score': 0.21}, {'connected_gene': 'ARFGEF1', 'score': 0.17}]
chr8	GH08I067197	67197709	67197920	0.4	[{'connected_gene': 'COPS5', 'score': 11.09}, {'connected_gene': 'CSPP1', 'score': 11.07}, {'connected_gene': 'PPP1R42', 'score': 11.07}, {'connected_gene': 'GC08M067189', 'score': 0.44}, {'connected_gene': 'GC08P067259', 'score': 0.21}, {'connected_gene': 'ARFGEF1', 'score': 0.11}]
chr8	GH08I067242	67242614	67242968	0.31	[{'connected_gene': 'COPS5', 'score': 10.29}, {'connected_gene': 'CSPP1', 'score': 10.27}, {'connected_gene': 'PPP1R42', 'score': 10.27}, {'connected_gene': 'GC08P067259', 'score': 0.37}, {'connected_gene': 'GC08M067189', 'score': 0.23}, {'connected_gene': 'ARFGEF1', 'score': 0.15}]
chr8	GH08I067255	67255706	67255855	0.79	[{'connected_gene': 'COPS5', 'score': 9.8}, {'connected_gene': 'CSPP1', 'score': 9.79}, {'connected_gene': 'PPP1R42', 'score': 9.79}, {'connected_gene': 'GC08P067259', 'score': 0.77}, {'connected_gene': 'GC08M067189', 'score': 0.21}, {'connected_gene': 'ARFGEF1', 'score': 0.17}]
chr8	GH08I067184	67184793	67185163	0.22	[{'connected_gene': 'NPM1P44', 'score': 550.77}, {'connected_gene': 'COPS5', 'score': 10.19}, {'connected_gene': 'CSPP1', 'score': 10.17}, {'connected_gene': 'PPP1R42', 'score': 9.77}, {'connected_gene': 'MCMDC2', 'score': 5.96}, {'connected_gene': 'C8orf44', 'score': 5.33}, {'connected_gene': 'PIR58223', 'score': 0.37}, {'connected_gene': 'ARFGEF1', 'score': 0.1}]
chr8	GH08I067192	67192897	67193073	0.22	[{'connected_gene': 'GC08M067189', 'score': 550.77}, {'connected_gene': 'COPS5', 'score': 11.1}, {'connected_gene': 'PPP1R42', 'score': 11.07}, {'connected_gene': 'CSPP1', 'score': 11.07}, {'connected_gene': 'GC08P067259', 'score': 0.2}, {'connected_gene': 'ARFGEF1', 'score': 0.1}]
chr8	GH08I067342	67342034	67345001	1.97	[{'connected_gene': 'ENSG00000271966', 'score': 550.77}, {'connected_gene': 'ARFGEF1', 'score': 550.77}, {'connected_gene': 'LOC102724708', 'score': 550.77}, {'connected_gene': 'GC08M067260', 'score': 0.21}, {'connected_gene': 'GC08P067259', 'score': 0.18}]
chr8	GH08I067235	67235606	67235975	0.33	[{'connected_gene': 'GC08P067259', 'score': 0.34}, {'connected_gene': 'GC08M067189', 'score': 0.26}, {'connected_gene': 'ARFGEF1', 'score': 0.14}]